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263654008: Abnormal (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
391916010 Abnormal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
655800016 Abnormal (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
139711000077111 anormal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2337331000195117 Abnorm de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2337341000195113 Auffällig de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal Is a Normality findings true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Abnormal anxiety related behavior Has interpretation True Abnormal Inferred relationship Some 1
Abnormal position of hair whorl Has interpretation True Abnormal Inferred relationship Some 2
Abnormal social behaviour Has interpretation True Abnormal Inferred relationship Some 2
Preauricular hair displacement Has interpretation True Abnormal Inferred relationship Some 2
Abnormal medial growth of eyebrow Has interpretation True Abnormal Inferred relationship Some 2
Central response of multifocal electroretinogram abnormal Has interpretation True Abnormal Inferred relationship Some 1
Best corrected visual acuity test abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Best corrected visual acuity test abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 2
Confrontation visual field test abnormal Has interpretation True Abnormal Inferred relationship Some 1
Confrontation visual field test abnormal Has interpretation True Abnormal Inferred relationship Some 2
Curly eyelashes (finding) Has interpretation True Abnormal Inferred relationship Some 2
Coat hanger appearance of rib (finding) Has interpretation True Abnormal Inferred relationship Some 3
Cerebellar ataxia with quadrupedal gait Has interpretation True Abnormal Inferred relationship Some 2
Continuous diaphragm sign Has interpretation True Abnormal Inferred relationship Some 2
Dark adapted bright flash electroretinogram amplitude abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted bright flash electroretinogram timing abnormal Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted bright flash electroretinogram a-wave amplitude reduced (finding) Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted bright flash electroretinogram b-wave amplitude supernormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted dim flash electroretinogram abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted dim flash electroretinogram amplitude abnormal Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted dim flash electroretinogram timing abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted electroretinogram abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted bright flash electroretinogram abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Dark adapted electroretinogram response absent (finding) Has interpretation True Abnormal Inferred relationship Some 1
Electroretinogram response absent Has interpretation True Abnormal Inferred relationship Some 1
Abnormal direction of hair whorl Has interpretation True Abnormal Inferred relationship Some 2
Full-field electroretinogram abnormal Has interpretation True Abnormal Inferred relationship Some 1
Hyperautofluorescent lesion of macula lutea (finding) Has interpretation True Abnormal Inferred relationship Some 2
Hyperautofluorescent lesion of retina (finding) Has interpretation True Abnormal Inferred relationship Some 2
Hyperintense lesion of basal ganglion on focal T2 magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 2
Hyperintense lesion of brainstem on focal T2 magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 2
Hyperintense lesion of thalamus on focal T2 magnetic resonance imaging Has interpretation True Abnormal Inferred relationship Some 2
Hypointense lesion of brainstem on focal T2 magnetic resonance imaging Has interpretation True Abnormal Inferred relationship Some 2
Hypointense lesion of thalamus on focal T2 magnetic resonance imaging Has interpretation True Abnormal Inferred relationship Some 2
Hypoautofluorescent lesion of macula lutea Has interpretation True Abnormal Inferred relationship Some 2
Hypoautofluorescent lesion of retina (finding) Has interpretation True Abnormal Inferred relationship Some 2
Hypointense lesion of basal ganglion on focal T2 magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 2
Increased eosinophil count of ascitic fluid Has interpretation True Abnormal Inferred relationship Some 1
Light adapted electroretinogram abnormal Has interpretation True Abnormal Inferred relationship Some 1
Light adapted flicker electroretinogram abnormal Has interpretation True Abnormal Inferred relationship Some 1
Light adapted single flash electroretinogram amplitude abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Light adapted single flash electroretinogram timing abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Light and dark adapted electroretinogram abnormal Has interpretation True Abnormal Inferred relationship Some 1
Light adapted electroretinogram response absent Has interpretation True Abnormal Inferred relationship Some 1
Light and dark adapted electroretinogram response absent (finding) Has interpretation True Abnormal Inferred relationship Some 1
Light adapted flicker electroretinogram amplitude abnormal Has interpretation True Abnormal Inferred relationship Some 1
Light adapted flicker electroretinogram timing abnormal Has interpretation True Abnormal Inferred relationship Some 1
Light adapted single bright flash electroretinogram abnormal Has interpretation True Abnormal Inferred relationship Some 1
Multifocal electroretinogram abnormal Has interpretation True Abnormal Inferred relationship Some 1
Mild constriction of peripheral visual field Has interpretation True Abnormal Inferred relationship Some 1
Moderate constriction of peripheral visual field Has interpretation True Abnormal Inferred relationship Some 1
Pattern electroretinogram abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Pattern electroretinogram abnormal (finding) Has interpretation False Abnormal Inferred relationship Some 2
Pattern electroretinogram timing abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Pattern electroretinogram timing abnormal (finding) Has interpretation False Abnormal Inferred relationship Some 2
Pattern electroretinogram N95/P50 ratio abnormal Has interpretation True Abnormal Inferred relationship Some 1
Pattern electroretinogram N95/P50 ratio abnormal Has interpretation False Abnormal Inferred relationship Some 2
Pattern electroretinogram response absent Has interpretation True Abnormal Inferred relationship Some 1
Pattern electroretinogram response absent Has interpretation False Abnormal Inferred relationship Some 2
Pattern electroretinogram amplitude abnormal Has interpretation True Abnormal Inferred relationship Some 1
Pattern electroretinogram amplitude abnormal Has interpretation False Abnormal Inferred relationship Some 2
Paracentral response of multifocal electroretinogram abnormal Has interpretation True Abnormal Inferred relationship Some 1
Pinhole visual acuity test abnormal Has interpretation True Abnormal Inferred relationship Some 2
Restrictive behavior (finding) Has interpretation True Abnormal Inferred relationship Some 3
Lip discolouration Has interpretation True Abnormal Inferred relationship Some 2
Severe constriction of peripheral visual field Has interpretation True Abnormal Inferred relationship Some 1
Unstable visual fixation Has interpretation True Abnormal Inferred relationship Some 1
Uncorrected visual acuity test abnormal Has interpretation True Abnormal Inferred relationship Some 1
Uncorrected visual acuity test abnormal Has interpretation True Abnormal Inferred relationship Some 2
Visual acuity test abnormal Has interpretation True Abnormal Inferred relationship Some 1
Visual acuity test abnormal Has interpretation True Abnormal Inferred relationship Some 2
Abnormal ocular motility Has interpretation True Abnormal Inferred relationship Some 2
Limited downward eye movement (finding) Has interpretation True Abnormal Inferred relationship Some 2
Limited eye movement (finding) Has interpretation True Abnormal Inferred relationship Some 2
Limited rightward eye movement (finding) Has interpretation True Abnormal Inferred relationship Some 2
Limited leftward eye movement (finding) Has interpretation True Abnormal Inferred relationship Some 2
Limited upward eye movement (finding) Has interpretation True Abnormal Inferred relationship Some 2
Visual gaze preference (finding) Has interpretation True Abnormal Inferred relationship Some 2
Cerebellar ataxic gait Has interpretation True Abnormal Inferred relationship Some 1
Cerebellar gait Has interpretation True Abnormal Inferred relationship Some 1
A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, esotropia, strabismus, and nystagmus). Has interpretation True Abnormal Inferred relationship Some 4
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present. Has interpretation True Abnormal Inferred relationship Some 7
A rare genetic, hemorrhagic disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, bleeding gums and excessive bleeding after minor trauma or surgical procedures. Severity of bleeding is variable, and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor V (FV) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas bleeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon 13 is known as Atlanta bleeding disorder. Has interpretation True Abnormal Inferred relationship Some 1
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. Has interpretation True Abnormal Inferred relationship Some 6
Lochia abnormal Has interpretation True Abnormal Inferred relationship Some 1
Abnormal cerebral sign in newborn Has interpretation True Abnormal Inferred relationship Some 2
Postpartum disorder of abnormal fibrinolysis (disorder) Has interpretation True Abnormal Inferred relationship Some 2
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. Has interpretation True Abnormal Inferred relationship Some 3
Abnormal complexion Has interpretation True Abnormal Inferred relationship Some 2
Vascular hyperintensity of temporal lobe on fluid attenuated inversion recovery magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of left temporal lobe on fluid attenuated inversion recovery magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of right temporal lobe on fluid attenuated inversion recovery magnetic resonance imaging Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of bilateral temporal lobes on fluid attenuated inversion recovery magnetic resonance imaging Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of parietal lobe on fluid attenuated inversion recovery magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of left parietal lobe on fluid attenuated inversion recovery magnetic resonance imaging Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of right parietal lobe on fluid attenuated inversion recovery magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of bilateral parietal lobes on fluid attenuated inversion recovery magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of frontal lobe on fluid attenuated inversion recovery magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of thalamus on fluid attenuated inversion recovery magnetic resonance imaging (finding) Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of left frontal lobe on fluid attenuated inversion recovery magnetic resonance imaging Has interpretation True Abnormal Inferred relationship Some 1
Vascular hyperintensity of right frontal lobe on fluid attenuated inversion recovery magnetic resonance imaging Has interpretation True Abnormal Inferred relationship Some 1

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